G49R (p.Gly49Arg) variant of CEBPE (Q15744)
G49R (p.Gly49Arg) in CEBPE (Q15744) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; CEBPE-related disorder; Specific granule deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
G49R (p.Gly49Arg) variant details
- p.Gly49Arg
- rs1301261529
- ClinGen CA388953786
- ClinVar RCV002013655
- ClinVar RCV003402051
- Uncertain significance
- Inborn genetic diseases; CEBPE-related disorder; Specific granule deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.346
- REVEL 0.15
- ESM-1b 0.00
- AlphaMissense 0.84
- MetaLR 0.11
- MetaSVM -1.05
- CADD 24.10
- ClinVar: Uncertain significance (Inborn genetic diseases; CEBPE-related disorder; Specific granul)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- Structural context available